Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis

Journal of Medical Genetics

Volumn 35, Issue 8, 1998, Pages 674-676

  Parsons, D W ^a   McAndrew, P E ^a   Allinson, P S ^b   Parker Jr , W D ^b   Burghes, A H M ^a,c   Prior, T W ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

^c THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Quantitative PCR; Spinal muscular atrophy; Survival motor neurone gene

Indexed keywords

ARTICLE; CASE REPORT; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; MALE; MOLECULAR GENETICS; MOTONEURON; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SPINAL CORD MOTONEURON; SPINAL MUSCULAR ATROPHY; WERDNIG HOFFMANN DISEASE;

EID: 0031854388     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.8.674     Document Type: Article

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